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NPHP1 gene

Known as: JBTS4, SLSN1, Nephronophthisis 1 (Juvenile) Gene 
This gene is involved in the mediation of signal transduction.
National Institutes of Health

Related topics

Related topics

8 relations
Cytoskeletal ModelingJOUBERT SYNDROME 4 (disorder)Ligand BindingNephrolithiasis

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2019
2019
Two Chinese nephronophthisis pedigrees harbored a compound heterozygous deletion with a point mutation in NPHP1.
NPHP1 is the most prevalent genetic factor in the development of juvenile nephronophthisis (NPHP). In our previous study, NPHP1… 
2019
2019
PKD1 mutation may epistatically ameliorate nephronophthisis progression in patients with NPHP1 deletion
We report a patient with adult‐onset nephronophthisis (NPHP) that was identified a homozygous full gene deletion of NPHP1 and a… 
2017
2017
QMPSF is sensitive and specific in the detection of NPHP1 heterozygous deletions
Abstract Background: Nephronophthisis, an autosomal recessive nephropathy, is responsible for 10% of childhood chronic renal… 
2017
2017
Whole-exome sequencing identified compound heterozygous variants in MMKS in a Chinese pedigree with Bardet-Biedl syndrome
Bardet-Biedl syndrome (BBS) is a genetically heterogeneous disorder characterized by retinal dystrophy, polydactyly, obesity… 
2016
2016
Identification of an NPHP1 deletion causing adult form of nephronophthisis
AimsNephronophthisis (NPHP) is an autosomal recessive cystic disease of the kidney with main characteristic features of polyuria… 
2008
2008
Nephrocystin-1 interacts directly with Ack1 and is expressed in human collecting duct.
2001
2001
Improved strategy for molecular genetic diagnostics in juvenile nephronophthisis.
Juvenile or type 1 nephronophthisis (NPH1), an autosomal recessive cystic kidney disease, represents the most common genetic… 
1998
1998
Construction of a gene map of the nephronophthisis type 1 (NPHP1) region on human chromosome 2q12-q13.
A gene for the autosomal recessive kidney disorder juvenile nephronophthisis (NPH) is located on chromosome 2q between markers… 
1996
1996
Physical mapping of the gene for juvenile nephronophthisis (NPH1) by construction of a complete YAC contig of 7 Mb on chromosome 2q13.
Familial juvenile nephronophthisis (NPH) is an autosomal recessive cystic disease of the kidney that leads to end-stage renal… 
1995
1995
A 11 Mb YAC-based contig spanning the familial juvenile nephronophthisis region (NPH1) located on chromosome 2q.
A gene (NPH1) responsible for approximately 90% of the purely renal form of familial juvenile nephronophthisis, a progressive… 
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